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Items: 1 to 20 of 408

1.

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A.

Am J Hum Genet. 2000 Apr;66(4):1398-402. Epub 2000 Mar 17.

2.

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.

Hum Mutat. 2007 Apr;28(4):387-95.

PMID:
17211858
3.

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC.

Hum Mutat. 2007 Apr;28(4):396-405.

PMID:
17206620
4.

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B.

Am J Med Genet. 2002 May 15;109(4):284-90.

PMID:
11992482
5.

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM.

Am J Hum Genet. 1997 Mar;60(3):547-54.

6.
7.

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG.

Hum Mol Genet. 1998 Feb;7(2):249-55.

PMID:
9425231
8.

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM.

J Med Genet. 1996 Nov;33(11):940-6. Erratum in: J Med Genet 1997 Jan;334(1):87.

9.

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A.

Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887.

PMID:
18972565
10.

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.

Hum Mutat. 2005 Jan;25(1):28-37.

PMID:
15580559
13.

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U.

Am J Med Genet. 1997 Oct 3;72(1):94-105.

PMID:
9295084
14.

Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.

Hamel BC, Pals G, Engels CH, van den Akker E, Boers GH, van Dongen PW, Steijlen PM.

Clin Genet. 1998 Jun;53(6):440-6.

PMID:
9712532
15.

Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.

Pasquali M, Still MJ, Vales T, Rosen RI, Evinger JD, Dembure PP, Longo N, Elsas LJ.

Proc Assoc Am Physicians. 1997 Jan;109(1):33-41.

PMID:
9010914
16.

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F.

J Biol Chem. 1988 Jun 25;263(18):8561-4.

17.
20.

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR.

Semin Dermatol. 1993 Sep;12(3):229-40. Review.

PMID:
8217561

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